Delta F508 carrier question

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babybloo
Regular Member


Date Joined Aug 2005
Total Posts : 289
   Posted 1/22/2006 10:26 AM (GMT -7)   
Hello, I am going to pose this question to you as it seems I get crooked looks from my doctors.  I am a carrier of the d-F508 gene and though I do not have CF I have a lot of lung and bowel issues ever since I was a baby.  I had pneumonia at 2 months then again at 6mos.  I was diagnosed with Asthma at 3 years and have had chronic bouts of severe bronchitis and asthma issues throughout my whole life.  I am 30 now and it continues.  I am on several asthma meds and on and off of steroids.  Nothing in comparision to what you all have I am sure.  When I take the spirometry test I stay in the 80's and recently during this current illness my FEV numbers were in the low 70's.  My pulse ox is rarely in the high nineties and is usually around 92-94.  Is there some link between carrying the CF gene and having some symptoms like chronic thick mucous and asthma? 
 
I know what I need to look for with my son as my ex husband was also a carrier for a different gene.  They tested him when he was born but lost the results.  So far his is doing great and I think we are in the clear for the most part although they say he could be sterile, but we shall deal with that in time.  
 
thanks and best wishes,
 
bloo

Twinstride
Regular Member


Date Joined Sep 2005
Total Posts : 318
   Posted 1/25/2006 6:06 AM (GMT -7)   
Hi I am a bit confused and can understand your physicians giving crooked looks....its just not textbook criteria to have "carrier status" WITH CF symptoms.

Carrier status CF genetic mutation identification is done by a blood test and often enough, they will look for the most common out of a very large string of mutations. My daughter is a carrier of the same genetic mutation as my CF twins do. DeltaF508. She has no symptoms.

By the description of your symptoms it sounds as tho you do have CF, you have classical symptoms of it. What does your sweat chloride test results say? 50 or above?.

I do have to say this tho.....I have talked with a parent of her baby carrying all the symptoms and tested NEGATIVE for CF. There was another type of problem that the baby had and cannot remember the name of if to save my life. I have lost contact with her and cant find that info out for you. Sorry.

Feel better!
Kathy, mom to identical twin boys with CF (9yrs), daughter 20, grandaughter 2 1/2, one on the way!
 
If there is a CURE for Cystic Fibrosis this very moment and this is "not soon enough"...you would hear this twins mom "Across America" "YESSSSSSSSSS"!!.
 
Moderator, Cystic Fibrosis.  "If there is questionable doubt, check it out"....with your healthcare provider!.  We are here to offer support, encouragement, and answer your questions as best we can.  Don't hesitate to step on in and enjoy!.


babybloo
Regular Member


Date Joined Aug 2005
Total Posts : 289
   Posted 1/25/2006 10:15 AM (GMT -7)   
Thank you for your response. I don't believe I have CF at all. I do have severe asthma and several other issues. I was doing some research on the net in the last few days and it does say that there are peoplewho are considered carriers that have or are more prone to other illnesses like asthma. But that is the internet. I wonder I guess because of how sick I have been and even when healthy I never pass my breathing test if there is a strain that wasn't tested for. Something that can only cause mild not life threatening symptoms? They only tested for 25 and from what I have read their could be hundreds of combinations. I worry because of my little boy more than anything. They only did a sweat test when he was born, apparently negative. But I wonder what he carries. In maryland they would have tested his blood since both me and his father carry some type and if he were to have both or even just his dads there could be certain health issues. His dad had a 5t allele. From what I gathered during genetic counselling david would not develop CF. The pediatrician on call at delivery said that the combination could cause devastating issues but Iam not sure he was totally up to date on CF. David has had chronic issues with his immune system being crappy and was hospitalized a year ago for not healing fast enough from an intestinal illness. Turns out it was pancreatitis. It is more a question of curiosity than anything else. I just can't seem to shake this congestion and have had more trouble breathing when I am sick or not that it makes a person wonder. The two of us are such lemons I wish he didn't get my genes at all. Plus he has his father's finger tips that are a big rounded and puffy at the ends which could just be a nothing too. You know how parents are about their kids.

love to ya

bloo
dx:  unknown
 
current: asthma, allergies w/anaphylaxsis, hypertension, high sed rate, high CRP, raynaud's syndrome, hypothyroid
 
meds: Neurontin 3000mg, Protonix 40mg QD, Singulair 10mg, Maxair, Advair 250/50, Diovan 160mg QD, Synthroid .1mg QD, Women's One a Day, B6 and B12, Ibuprofen 800mg, Ultram 200mg.
 
One Day We Will All Feel Good!


Twinstride
Regular Member


Date Joined Sep 2005
Total Posts : 318
   Posted 1/27/2006 6:06 AM (GMT -7)   
Club fingers are a indication of CF and also (could be) a indication of a respiratory condition. There is a carrier status blood test that detects all mutations. This is how my boys were diagnosed with which mutation that was involved.

One vial of blood is all that is needed for the testing.
Kathy, mom to identical twin boys with CF (9yrs), daughter 20, grandaughter 2 1/2, one on the way!
 
If there is a CURE for Cystic Fibrosis this very moment and this is "not soon enough"...you would hear this twins mom "Across America" "YESSSSSSSSSS"!!.
 
Moderator, Cystic Fibrosis.  "If there is questionable doubt, check it out"....with your healthcare provider!.  We are here to offer support, encouragement, and answer your questions as best we can.  Don't hesitate to step on in and enjoy!.

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